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Progress in therapy for Duchenne muscular dystrophy
Author(s) -
Fairclough Rebecca J.,
Bareja Akshay,
Davies Kay E.
Publication year - 2011
Publication title -
experimental physiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.925
H-Index - 101
eISSN - 1469-445X
pISSN - 0958-0670
DOI - 10.1113/expphysiol.2010.053025
Subject(s) - duchenne muscular dystrophy , dystrophin , utrophin , wasting , muscular dystrophy , medicine , weakness , dysferlin , bioinformatics , muscle weakness , itga7 , biology , anatomy
Duchenne muscular dystrophy is a devastating muscular dystrophy of childhood. Mutations in the dystrophin gene destroy the link between the internal muscle filaments and the extracellular matrix, resulting in severe muscle weakness and progressive muscle wasting. There is currently no cure and, whilst palliative treatment has improved, affected boys are normally confined to a wheelchair by 12 years of age and die from respiratory or cardiac complications in their twenties or thirties. Therapies currently being developed include mutation‐specific treatments, DNA‐ and cell‐based therapies, and drugs which aim to modulate cellular pathways or gene expression. This review aims to provide an overview of the different therapeutic approaches aimed at reconstructing the dystrophin‐associated protein complex, including restoration of dystrophin expression and upregulation of the functional homologue, utrophin.